Paralogue Annotation for SCN5A residue 492

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 492
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 492

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HG499SEpilepsy, childhood absenceLow2 12891677

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5APVNSHERRSKRRKR----MS-SGTE-ECGE>D<RLPKSDSEDGPRAM--N-------------507
SCN1ASKSAKERRNRRKKRKQKEQS-GGEE-KDE->D<EFQKSESEDSIRRK--GFRFSIEGNRLTYE546
SCN2ASKSEKELKNRRKKKKQKEQS-GEEE-KND->-<RVRKSESEDSIRRK--GFRFSLEGSRLTYE549
SCN3ASKSAKEWRNRRKKRRQREHL-EGNN-KGER>D<SFPKSESEDSVKRS--SFLFSMDGNRLTSD549
SCN4A-------------------E-GGEA-DGD->-<------------------------------499
SCN7A------------------------------>-<------------------------------
SCN8ASKSAKERRNRRKKRKQKELS-EGEE-KGDP>E<KVFKSESEDGMRRK--AFRLP-D-NRIG--537
SCN9ASKSAKERRNRRKKKNQKKLS-SGEE-KGDA>E<KLSKSESEDSIRRK--SFHLGVEGHRRAHE526
SCN10ASKNASERRHRIKPRV----S-EGST-ED-->N<KSPRSDPYN-Q-------------------484
SCN11APKKRKLFGNKKRKS----FF-LRES-GKD->-<QPPGSDSDE---------------------486
CACNA1A----------------------------GE>Q<RH----------------------------415
CACNA1B----------------------------AE>E<KS----------------------------411
CACNA1C----------------------------MD>-<------------------------------457
CACNA1D----------------------------GE>-<------------------------------458
CACNA1E----------------------------AG>T<SA----------------------------406
CACNA1F----------------DNLG-SM-----AE>-<------------------------------430
CACNA1G----------------VGLLSSPAP-LGGQ>E<TQPSSSCSRSHRRL--SV-HHLVH------496
CACNA1H----------------RK-KVDPSA-VQGQ>G<PGHRQRRAG---RHTASVHHLVYH------520
CACNA1I----------------QA-L-GPEAPAPAK>-<PGPHAKEPR---HYHGKTKGQGDE------497
CACNA1S----------------------------KL>-<------------------------------386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 492 for SCN5A.